المؤلفون: Deeny, HA, Murphy, AM, O'Rourke, D, Gallagher, S, Rea, G, Ware, JS, Lightman, EG, Walsh, R, John, S, Homfray, T, Till, J, Prasad, S, Buchan, R, Wilkinson, S, Barton, PJR, Cook, SA, McVeigh, TP, Cody, N, Meany, M, Carroll, C, O'Shea, R, Gallagher, DJ, Clabby, C, Green, AJ, Casey, J, Crushell, E, Hughes, J, Losty, E, Slattery, D, Green, A, Ennis, S, Lynch, SA, Kirk, CW, McKee, S, Project, DDD, Al Shehhi, M, Shen, S, Gallagher, L, Betts, DR, McArdle, L, Quinn, EM, Coleman, C, Molloy, B, Dominguez Castro, P, Trimble, V, Mahmud, N, McManus, R, Jung, S, Salzman, D, Kerin, MJ, Nallur, S, Dookwah, M, Nemec, AA, Sadofsky, J, Paranjape, T, Kelly, O, Chan, E., Miller, N, Sweeney, KJ, Zelterman, D, Sweasy, J, Pilarski, R, Telesca, D, Weidhaas, JB, Stapleton, CP, McCormack, M, Connaughton, D, Phelan, PJ, Cavalleri, GL, Conlon, PJ, Gilbert, E, O'Reilly, S, Merrigan, M, McGettigan, D, Cavalleri, G, Heavin, SB, Slattery, L, Walley, N, Avbersek, A, Novy, J, Sinha, S, Alarts, N, Legros, B, Radtke, R, Doherty, C, Depondt, C, Sisodiya, S, Goldstein, D, Delanty, N, Nesbit, MA, Courtney, DG, Allen, EHA, Atkinson, SD, Maurizi, E, Moore, JE, Pedrioli, DM Leslie, McLean, WHI, Moore, CBT, Petyrka, J, Vieira, M, Donnelly, DE, O'Neill, T, Hardy, R, Morrison, PJ, Hegarty, M, Irvine, M, Dabir, T, Zhang, X, Dineen, T, Flanagan, J, Kovacs, A, Mihart, R, O'Callaghan, J, Culligan, J, Daly, N, McAuliffe, D, Waterstone, J, Owens, P, Guerin, C, Quill, D, Bell, M, Lowery, AJ, Bradley, L, Barton, DE, Matthews, J, Turner, J, O'Byrne, JJ, Fitzsimons, PE, Unger, S, Croft, J, Mayne, PD, Moylette, E, McDonnell, C, Parker, VE, Al-Shehhi, M, Kelly, PM, Costigan, C, Hegarty, A, Knox, R, Byrne, S, Semple, LRK., Irvine, A, McDaid, J, Ryan, H, Dunne, A, Lambert, DM, Treacy, EP, Lynch, SM, McKenna, MM, Walsh, CP, McKenna, DJ, Whitton, L, Cosgrove, D, Clarkson, C, Gill, M, Corvin, A, Rea, S, Donohoe, G, Morris, D, Neville, J, Ryan, AM, Hand, CK, Ryan, E, Ryan, F, Barton, D, O'Dwyer, V, Neylan, D, Nesbitt, H, Byrne, NM, Worthington, J, Mc Keown, SR, Mc Kenna, DJ, Harold, D, Holland, J, Mothershill, O, Allen, EH, Leslie Pedrioli, DM, Courtney, D, Cole, A, Cox, S, Jeong, C, Droma, Y, Hanaoka, M, Ota, M, Gasparini, P, Montgomery, H, Di Rienzo, A, Robbins, P, L. Cavalleri, G, Heavin, S, Buckley, P, Irwin, RE, Thakur, A, O’ Neill, KM, Cummins, Paul, Mackin, SJ, O'Neill, K, Walsh, C, Schiroli, D, Mulligan, R, Sebag, F, Ozaki, M, Molloy, AM, Mills, JL, Fan, R, Wang, Y, Gibney, ER, Shane, B, Brody, LC, Parle-Mcdermott, A, O'Halloran, ET, Ebrahim, A, Meydan, C, Mason, C, Magalhães, TR

المصدر: The Ulster Medical Journal

مصطلحات موضوعية: Poster Presentations, Abstracts, Programme, Spoken Papers

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmc_________::8954599fc3cb5de9d5f4819409a3d6a4
http://europepmc.org/articles/PMC4642251

المؤلفون: Conlon TA; National Centre for Inherited Metabolic Disorders Children's Health Ireland at Temple Street Dublin Ireland.; School of Medicine University College Dublin Dublin Ireland., Fitzsimons PE; Department of Paediatric Laboratory Medicine Children's Health Ireland at Temple Street Dublin Ireland., Borovickova I; Department of Paediatric Laboratory Medicine Children's Health Ireland at Temple Street Dublin Ireland., Kirby F; Department of Paediatric Intensive Care Children's Health Ireland at Temple Street Dublin Ireland., Murphy S; School of Medicine University College Dublin Dublin Ireland.; Department of General Paediatrics Children's Health Ireland at Temple Street Dublin Ireland., Knerr I; National Centre for Inherited Metabolic Disorders Children's Health Ireland at Temple Street Dublin Ireland.; School of Medicine University College Dublin Dublin Ireland., Crushell E; National Centre for Inherited Metabolic Disorders Children's Health Ireland at Temple Street Dublin Ireland.; School of Medicine University College Dublin Dublin Ireland.

المصدر: JIMD reports [JIMD Rep] 2020 Jun 30; Vol. 55 (1), pp. 26-31. Date of Electronic Publication: 2020 Jun 30 (Print Publication: 2020).

نوع المنشور: Case Reports

بيانات الدورية: Publisher: Wiley Country of Publication: United States NLM ID: 101568557 Publication Model: eCollection Cited Medium: Print ISSN: 2192-8304 (Print) Linking ISSN: 21928304 NLM ISO Abbreviation: JIMD Rep Subsets: PubMed not MEDLINE

المؤلفون: Fitzsimons PE; Department of Paediatric Laboratory Medicine, Temple Street Children's University Hospital, Dublin, Ireland., Alston CL; Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, NE2 4HH, United Kingdom., Bonnen PE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas., Hughes J; National Centre for Inherited Metabolic Disorders, Temple Street Children's University Hospital, Dublin, Ireland., Crushell E; National Centre for Inherited Metabolic Disorders, Temple Street Children's University Hospital, Dublin, Ireland., Geraghty MT; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada K1H 8L1., Tetreault M; Department of Human Genetics, McGill University, Montreal, Québec, Canada H3A 1B1., O'Reilly P; National Centre for Inherited Metabolic Disorders, Temple Street Children's University Hospital, Dublin, Ireland., Twomey E; Department of Radiology, Temple Street Children's University Hospital, Dublin, Ireland., Sheikh Y; Department of Radiology, Temple Street Children's University Hospital, Dublin, Ireland., Walsh R; Department of Paediatric Laboratory Medicine, Temple Street Children's University Hospital, Dublin, Ireland., Waterham HR; Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Academic Medical Center, Amsterdam, The Netherlands., Ferdinandusse S; Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Academic Medical Center, Amsterdam, The Netherlands., Wanders RJA; Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Academic Medical Center, Amsterdam, The Netherlands., Taylor RW; Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, NE2 4HH, United Kingdom., Pitt JJ; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia., Mayne PD; Department of Paediatric Laboratory Medicine, Temple Street Children's University Hospital, Dublin, Ireland.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2018 May; Vol. 176 (5), pp. 1115-1127. Date of Electronic Publication: 2018 Mar 25.

نوع المنشور: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

مواضيع طبية MeSH: Biomarkers* , Genetic Association Studies*/methods , Genetic Predisposition to Disease* , Phenotype*, Enoyl-CoA Hydratase/*deficiency, Amino Acid Sequence ; Brain/abnormalities ; Brain/diagnostic imaging ; Chromatography, Liquid ; DNA Mutational Analysis ; Enoyl-CoA Hydratase/genetics ; Enoyl-CoA Hydratase/metabolism ; Enzyme Activation ; Female ; Humans ; Infant ; Infant, Newborn ; Magnetic Resonance Imaging ; Male ; Metabolic Networks and Pathways ; Metabolome ; Metabolomics/methods ; Pedigree ; Tandem Mass Spectrometry ; Valine/metabolism

المؤلفون: Chopra M; Northern Ireland Center for Diet and Health (NICHE), University of Ulster, Coleraine BT52 1SA, Northern Ireland. M.Chopra@ulst.ac.uk, Fitzsimons PE, Strain JJ, Thurnham DI, Howard AN

المصدر: Clinical chemistry [Clin Chem] 2000 Aug; Vol. 46 (8 Pt 1), pp. 1162-70.

نوع المنشور: Clinical Trial; Journal Article; Randomized Controlled Trial; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 9421549 Publication Model: Print Cited Medium: Print ISSN: 0009-9147 (Print) Linking ISSN: 00099147 NLM ISO Abbreviation: Clin Chem Subsets: MEDLINE

مواضيع طبية MeSH: Wine*, Antioxidants/*pharmacology , Lipoproteins, LDL/*blood , Quercetin/*pharmacology, Adult ; Aged ; Apolipoproteins B/blood ; Ascorbic Acid/blood ; Carotenoids/blood ; Humans ; Kinetics ; Lipoproteins, LDL/chemistry ; Male ; Middle Aged ; Oxidation-Reduction ; Vitamin A/blood ; Vitamin E/blood